PLCD1 and Pilar Cysts
October 2019
in “
The journal of investigative dermatology/Journal of investigative dermatology
”
PLCD1 trichilemmal cysts whole exome sequencing peripheral leukocyte DNA high-risk allele cyst-specific variant PLC81 function channel activation diacylglycerol species two-hit model skin homeostasis hereditary trichilemmal cysts genetic basis of cysts skin cysts genetic sequencing blood DNA genetic risk cyst variant gene function cell signaling lipid production genetic model skin balance inherited cysts
Studysummary This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.
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